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HomeClinics, Services & ProgramsA-Z DirectoryNewborn Screening

Newborn Screening

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Children, youth and families   Healthcare providers

About the Newborn Screening Ontario (NSO) and CHEO Newborn Screening Centre (NBS Centre) 

Newborn Screening Ontario (NSO), located at CHEO’s main campus, is the provincial program that coordinates newborn screening across Ontario. The NSO multidisciplinary team provides a comprehensive program of analysis, follow-up, education, research and development. 

NSO coordinates and oversees dried blood spot (DBS) screening for several diseases, point-of-care screening for critical congenital heart disease (CCHD), and parent-led screening for biliary atresia (BA) in Ontario. NSO also works with the Infant Hearing Program to screen dried blood spots (DBS) for risk factors for permanent hearing loss (PHL). Please visit the NSO website to learn more about the types of newborn screening.  

What is newborn screening? 

Newborn screening involves tests done shortly after birth to look for treatable diseases that usually show no symptoms in the newborn period. For DBS screening a small amount of blood is collected from all babies shortly after birth using a heel-prick. In Ontario, this blood is sent to NSO in Ottawa where it is tested for several serious diseases including:  

  • metabolic diseases 
  • endocrine diseases 
  • sickle cell disease 
  • cystic fibrosis 
  • severe combined immune deficiency 
  • spinal muscular atrophy.  

Screening results show if a baby is at higher (positive screening result) or at lower (negative screening result) risk for the screened diseases. While the screening results can’t provide a diagnosis by confirming or ruling out a disease, the results do help indicate when additional early diagnostical testing is required. Early diagnostical testing is the key to effective, timely treatment when needed. 

Babies who screen positive on their dried blood sample will be referred to specialists at Newborn Screening Regional Treatment Centres in Ontario. These specialized centres coordinate diagnostic testing to determine if a baby is truly affected and provide treatment and management for the disease, if needed. CHEO’s Newborn Screening Centre is one of them.  

About our team 

CHEO’s Newborn Screening Centre team includes a registered nurse and disease specialists (metabolics, endocrinology, hematology, cystic fibrosis, immunology, infectious diseases and neurology). 

Information for families, parents and caregivers

Before your appointment

CHEO’s NBS Centre registered nurse will contact you by phone to disclose your newborn’s screen positive result and possibly schedule an in-person appointment at CHEO. Follow-ups can also be organized closer to your home address via your local primary health care providers (like pediatricians on call, family doctors, nurse practitioners or midwifes offices).

Details about this follow-up appointment will be provided during this first phone call. 

If something changes and you need to reschedule your in-person appointment with CHEO’s NBS Centre, please call (613) 737-7600 x 2817 and let our team know. No-shows result in delays for a final diagnosis, as collection of diagnostic testing is planned the same day.  

 

You will need to bring the following items to your and your newborn’s appointment: 

  • newborn health card paper and parents' valid health cards, 

  • relevant medical information for your newborn(s) (Example: recent weight measurements and medication list).  

Please consider signing up for a MyChart account.  

What to expect during your appointment

If you already have chosen a first and last name for your newborn, the clinic clerk will update this information in their CHEO file. Please let our clerk know also if your newborn is followed by a pediatrician/family doctor/nurse practitioner/midwife or if you have a family pharmacy. Contact information for parents (names, phone numbers and home addresses) will also be updated.

During your first visit, you and your newborn(s) may be seen by the following healthcare providers:  

  • a registered nurse from CHEO’s NBS Centre (usually)   

  • medical students, residents, fellows, or other learners, as CHEO is a teaching hospital 

  • in special cases, doctors with special expertise in metabolics, endocrinology, hematology, respirology, immunology, infectious disease or neurology  

You will be asked questions about your/your child’s pregnancy and birth, your/your child’s medical history, and your family history (on both parents’ sides). In special cases, a doctor will do a physical examination of your newborn(s). Depending on your child screening result, the appropriate medical team on-call at CHEO will offer diagnostic testing for your child and sometimes for you.  

After your appointment

Once the results of the diagnostic testing are available, our nurse will call you with a follow-up plan.

  • Results of the diagnostic testing indicate that your newborn is not affected (false positive screening result): Your baby will be discharged from our care. A NBS discharge letter summarizing these results will be sent to you (via MyChart or Canada Post) and to your newborn’s primary health care provided (if available).  
  • Results of diagnostic testing revealed a need for a particular medical follow-up: Your newborn will be referred to an appropriate medical team by our nurse. You will receive this information by phone with details of this follow-up appointment. 

Frequently asked questions

How can I make an appointment?

Babies who screen positive for one or more of the diseases tested are referred by Newborn Screening Ontario (NSO) to CHEO’s NBS Centre every day. If you are trying to locate another specific regional treatment centre, NSO website provides this information. 

Once your newborn has a screen positive result in CHEO’s NBS Centre covered area, our nurse will call you and offer you more details about this screening result and the follow-up appointment at CHEO or in your local community.  

Who should I contact if I am worried or have questions?
  • For any emergency, call 911. This includes emergencies involving your child’s Newborn Screening related concerns. 

  • For patients who are being followed by CHEO’s Newborn Screening Centre: Parents who have received a phone call from our nurse can contact them directly (by phone, through MyChart or sending an email). This communication is not for urgent calls or urgent concerns related to the health of your newborn. If you have any medical concerns for your newborn’s health related to a screening positive result, please page the appropriate CHEO’s medical team on call at (613) 737-7600 ext. 0 and request to speak with their team doctor on call.  

  • For parents who are waiting for their newborns screening results: Results of the dried blood spot test are usually available within a few days. NSO routinely sends results to the hospital or healthcare provider who ordered the test. NSO will also send results to a baby's health care provider upon request. As parents/guardians or the baby’s health care provider, you can request these screening results directly from NSO.  

Please do not call the NBS Centre nurse line if you have not yet been called by our team. Please instead contact your family doctor, pediatrician or visit your nearest walk-in clinic. 

What tests might I or my newborn need after a newborn screen positive result?

We may need to perform tests on the same day as your visit that will include:

  • blood sample collection for your newborn and sometimes for you,
  • urine samples collection for your newborn and sometimes for you,
  • medical imaging for your newborn.

If needed, at later visits, more specialized testing or repeated testing could be requested.

These tests and their results will be discussed with you at your visits.

Sign up for MyChart to access your CHEO health record anywhere, any time. 
MyChart is a secure, online patient portal that connects you to parts of your CHEO electronic health record and allows you to send two-way secure communication to your care team, complete any questionnaires your care team sends and much more. 
To learn more about MyChart and sign up, visit our MyChart page and fill out the MyChart Access Request Form.

Information for healthcare providers

Make a referral

Our clinic is now accepting e-referrals with Ocean!

If you’re already on Ocean, look us up via your account by searching "CHEO".
If you don’t yet have an Ocean account, no problem - signing up is free.

Make a referral in Ocean

You can make an e-referral using Ocean, or send a referral by mail or fax to our address below.

Referral criteria and eligibility

Referral criteria
Reason for referral Criteria Mandatory information to include in referral Other information
Newborn screened positive in another province of Canada (Example: Quebec) Newborn screened positive result Referral received with positive screening result for diseases screened by NSO.  Contact information for parents

Contact us

CHEO’s Newborn Screening Centre 
CHEO’s Newborn Screening Centre is located at the main CHEO campus (401 Smyth Road) in Clinic C-5 and is open Monday to Friday, 8AM to 4PM.  

CHEO’s Newborn Screening Centre – registered nurse contact information 
401 Smyth Road  
Ottawa, ON K1H 8L1  
Tel: (613) 737-7600 Ext 2817  
Fax: (613) 738-4216  

Mailing address  
Division of Metabolics and Newborn Screening  
Department of Pediatrics, Room W3116  
CHEO  
401 Smyth Road
Ottawa, ON K1H 8L1
Tel: (613) 737-7600 Ext 2821
Fax: (613) 738-4216

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